{"orpha":2074,"name":"Gemignani syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Spinocerebellar ataxia-amyotrophy-deafness syndrome","Spinocerebellar ataxia-amyotrophy-hearing loss syndrome"],"definition":"Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2074/","orphanet_url":"https://www.orpha.net/en/disease/detail/2074","names":{"fr":{"name":"Syndrome de Gemignani","synonyms":["Syndrome d'ataxie spino-cérébelleuse-amyotrophie-surdité"],"definition":"Maladie neurodégénérative rare caractérisée par une ataxie lentement progressive, une amyotrophie des mains et de la partie distale des bras, une paraplégie spastique, une surdité neurosensorielle progressive, un hypogonadisme et une petite taille. Les autres manifestations comprennent une atrophie cérébelleuse généralisée et des anomalies du système nerveux périphérique. Une petite moelle épinière cervicale, une déficience intellectuelle/un retard de langage et un vitiligo localisé ont également été rapportés. Aucun cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Gemignani-Syndrom","synonyms":["Ataxie, spinozerebelläre - Amyotrophie - Schwerhörigkeit"]},"es":{"name":"Síndrome de Gemignani","synonyms":["Síndrome de ataxia espinocerebelosa-amiotrofia-hipoacusia","Síndrome de ataxia espinocerebelosa-amiotrofia-sordera"],"definition":"El síndrome de Gemignani, es una enfermedad neurodegenerativa poco frecuente caracterizada por ataxia lentamente progresiva, amiotrofia de las manos y porción distal de los brazos, paraparesia espástica, pérdida auditiva neurosensorial progresiva, hipogonadismo y talla baja. Otras características adicionales incluyen atrofia cerebelosa generalizada y anomalías del sistema nervioso periférico. También se han descrito casos de médula espinal cervical pequeña, discapacidad intelectual / del lenguaje y vitíligo localizado. No ha habido más casos descritos en la literatura desde 1989."},"it":{"name":"Sindrome di Gemignani","synonyms":["Atassia spinocerebellare - amiotrofia - sordità"],"definition":"La sindrome di Gemignani è una malattia neurodegenerativa rara, caratterizzata da atassia a progressione lenta, amiotrofia delle mani e della porzione distale delle braccia, paraplegia spastica, sordità neurosensoriale progressiva, ipogonadismo e bassa statura. Altri segni clinici sono l'atrofia cerebellare generalizzata e le anomalie del sistema nervoso periferico. Sono stati descritti pazienti con ipoplasia del midollo spinale cervicale, disabilità intellettiva, deficit del linguaggio e vitiligine localizzata. Non sono stati descritti nuovi casi dopo il 1989."},"nl":{"name":"Syndroom van Gemignani","synonyms":["Spinocerebellaire ataxie - amyotrofie - doofheid-syndroom","Spinocerebellaire ataxie - amyotrofie - gehoorverlies-syndroom"],"definition":"Syndroom van Gemignani is een zeldzame neurodegeneratieve ziekte die gekarakteriseerd wordt door traag progressieve ataxie, amyotrofie van de handen en distale armen, spastische paraplegie, progressief sensorineuraal gehoorverlies, hypogonadisme en kleine gestalte. Bijkomende kenmerken zijn onder meer gegeneraliseerde cerebellaire atrofie en anomalieën van het perifere zenuwstelsel. Een kleine cervicale wervelkolom, intellectuele/taalachterstand en gelokaliseerde vitiligo werden ook reeds gerapporteerd. Sinds 1989 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Gemignani","synonyms":["Ataxia espinocerebelosa-amiotrofia-surdez"]},"pl":{"name":"Zespół Gemignaniego","synonyms":["Ataksja móżdżkowo-rdzeniowa - amiotrofia - głuchota"],"definition":"*Zespół Gemignaniego jest rzadką chorobą neurodegeneracyjną, która charakteryzuje się wolno postępującą ataksją, zanikiem mięśni rąk i przedramion, paraplegią spastyczną, postępującym niedosłuchem czuciowo-nerwowym, hipogonadyzmem i niskim wzrostem. Dodatkowe cechy obejmują uogólniony zanik móżdżku i wady obwodowego układu nerwowego. Opisywano również skrócenie szyjnego odcinka rdzenia kręgowego, niepełnosprawność intelektualną/w zakresie umiejętności językowych oraz miejscowe bielactwo. Od 1989 roku nie ma nowych opisów w literaturze."},"cs":{"name":"Gemignaniho syndrom","synonyms":["Syndrom zahrnující spinocerebelární ataxii, amyotrofii a hluchotu"]},"uk":{"name":"Синдром Джеміньяні","synonyms":["Синдром спіноцеребелярної атаксії-аміотрофії-глухоти","Синдром спіноцеребеллярної атаксії-аміотрофії-глухоти"],"definition":"Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989."},"zh":{"name":"Gemignani综合征","synonyms":["脊髓小脑共济失调-肌萎缩-听力损失综合征"]},"tr":{"name":"Gemignani sendromu","synonyms":["Spinoserebellar ataksi-amiyotrofi-sağırlık sendromu","Spinoserebellar ataksi-amiyotrofi-işitme kaybı sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016159","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537678","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931587","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2451","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98099,"name":"Autosomal recessive syndromic cerebellar ataxia","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3958822[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3958822[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null}]}}